nsv6315223
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex substitution
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:159,283,658
- Description:Single allele AND Ring chromosome 7
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 452963 SVs from 152 studies. See in: genome view
Overlapping variant regions from other studies: 451299 SVs from 152 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6315223 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 43,360 | 159,327,017 |
nsv6315223 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 43,360 | 159,119,707 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17976979 | complex substitution | Multiple | Multiple | Ring chromosome 7 | Pathogenic | ClinVar | RCV002280646.1, VCV001703560.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|
nssv17976979 | Remapped | Good | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 43,360 | 159,327,017 |
nssv17976979 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 43,360 | 159,119,707 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|
nssv17976979 | complex substitution | unknown | Ring chromosome 7 | Pathogenic | ClinVar | RCV002280646.1, VCV001703560.1 |